WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19359530_19359613dup | CA658684284 | PDHA1 | c.1071_1154dup (p.Arg385_Gly386insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.*742_*825dup (n.*742_*825dup) c.1134_1217dup (p.Arg406_Gly407insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.1164_1247dup (p.Arg416_Gly417insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) n.845_928dup c.*382_*465dup (n.*382_*465dup) c.*505_*588dup (n.*505_*588dup) c.1050_1133dup (p.Arg378_Gly379insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.207_290dup (p.Arg97_Gly98insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) n.489_572dup c.957_1040dup (p.Arg347_Gly348insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.1185_1268dup (p.Arg423_Gly424insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) c.1092_1175dup (p.Arg392_Gly393insGlnPheAlaThrAlaAspProGluProProLeuGluGluLeuGlyTyrHisIleTyrSerSerAspProProPheGluValArg) | ClinVar dbSNP |
| X | g.19359542G>A | CA10363206 | PDHA1 | c.1083G>A (p.Thr361=) c.*754G>A (n.*754G>A) c.1146G>A (p.Thr382=) c.1176G>A (p.Thr392=) n.857G>A c.*394G>A (n.*394G>A) c.*517G>A (n.*517G>A) c.1062G>A (p.Thr354=) c.219G>A (p.Thr73=) n.501G>A c.969G>A (p.Thr323=) c.1197G>A (p.Thr399=) c.1104G>A (p.Thr368=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.19359542G>C | CA515486432 | PDHA1 | c.1083G>C (p.Thr361=) c.*754G>C (n.*754G>C) c.1146G>C (p.Thr382=) c.1176G>C (p.Thr392=) n.857G>C c.*394G>C (n.*394G>C) c.*517G>C (n.*517G>C) c.1062G>C (p.Thr354=) c.219G>C (p.Thr73=) n.501G>C c.969G>C (p.Thr323=) c.1197G>C (p.Thr399=) c.1104G>C (p.Thr368=) | dbSNP |
| X | g.19359542G= | CA2418225582 | PDHA1 | c.1083G= (p.Thr361=) c.*754G= (n.*754G=) c.1146G= (p.Thr382=) c.1176G= (p.Thr392=) n.857G= c.*394G= (n.*394G=) c.*517G= (n.*517G=) c.1062G= (p.Thr354=) c.219G= (p.Thr73=) n.501G= c.969G= (p.Thr323=) c.1197G= (p.Thr399=) c.1104G= (p.Thr368=) | |
| X | g.19359542G>T | CA10363205 | PDHA1 | c.1083G>T (p.Thr361=) c.*754G>T (n.*754G>T) c.1146G>T (p.Thr382=) c.1176G>T (p.Thr392=) n.857G>T c.*394G>T (n.*394G>T) c.*517G>T (n.*517G>T) c.1062G>T (p.Thr354=) c.219G>T (p.Thr73=) n.501G>T c.969G>T (p.Thr323=) c.1197G>T (p.Thr399=) c.1104G>T (p.Thr368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359543G>A | CA412396598 | PDHA1 | c.1084G>A (p.Ala362Thr) c.*755G>A (n.*755G>A) c.1147G>A (p.Ala383Thr) c.1177G>A (p.Ala393Thr) n.858G>A c.*395G>A (n.*395G>A) c.*518G>A (n.*518G>A) c.1063G>A (p.Ala355Thr) c.220G>A (p.Ala74Thr) n.502G>A c.970G>A (p.Ala324Thr) c.1198G>A (p.Ala400Thr) c.1105G>A (p.Ala369Thr) | ClinVar dbSNP |
| X | g.19359543G>C | CA412396600 | PDHA1 | c.1084G>C (p.Ala362Pro) c.*755G>C (n.*755G>C) c.1147G>C (p.Ala383Pro) c.1177G>C (p.Ala393Pro) n.858G>C c.*395G>C (n.*395G>C) c.*518G>C (n.*518G>C) c.1063G>C (p.Ala355Pro) c.220G>C (p.Ala74Pro) n.502G>C c.970G>C (p.Ala324Pro) c.1198G>C (p.Ala400Pro) c.1105G>C (p.Ala369Pro) | |
| X | g.19359543G= | CA2418225583 | PDHA1 | c.1084G= (p.Ala362=) c.*755G= (n.*755G=) c.1147G= (p.Ala383=) c.1177G= (p.Ala393=) n.858G= c.*395G= (n.*395G=) c.*518G= (n.*518G=) c.1063G= (p.Ala355=) c.220G= (p.Ala74=) n.502G= c.970G= (p.Ala324=) c.1198G= (p.Ala400=) c.1105G= (p.Ala369=) | |
| X | g.19359543G>T | CA327031144 | PDHA1 | c.1084G>T (p.Ala362Ser) c.*755G>T (n.*755G>T) c.1147G>T (p.Ala383Ser) c.1177G>T (p.Ala393Ser) n.858G>T c.*395G>T (n.*395G>T) c.*518G>T (n.*518G>T) c.1063G>T (p.Ala355Ser) c.220G>T (p.Ala74Ser) n.502G>T c.970G>T (p.Ala324Ser) c.1198G>T (p.Ala400Ser) c.1105G>T (p.Ala369Ser) | dbSNP gnomAD v4 |
| X | g.19359543_19359548del | CA2695231669 | PDHA1 | c.1084_1089del (p.Ala362_Asp363del) c.*755_*760del (n.*755_*760del) c.1147_1152del (p.Ala383_Asp384del) c.1177_1182del (p.Ala393_Asp394del) n.858_863del c.*395_*400del (n.*395_*400del) c.*518_*523del (n.*518_*523del) c.1063_1068del (p.Ala355_Asp356del) c.220_225del (p.Ala74_Asp75del) n.502_507del c.970_975del (p.Ala324_Asp325del) c.1198_1203del (p.Ala400_Asp401del) c.1105_1110del (p.Ala369_Asp370del) | |
| X | g.19359544C>A | CA412396604 | PDHA1 | c.1085C>A (p.Ala362Asp) c.*756C>A (n.*756C>A) c.1148C>A (p.Ala383Asp) c.1178C>A (p.Ala393Asp) n.859C>A c.*396C>A (n.*396C>A) c.*519C>A (n.*519C>A) c.1064C>A (p.Ala355Asp) c.221C>A (p.Ala74Asp) n.503C>A c.971C>A (p.Ala324Asp) c.1199C>A (p.Ala400Asp) c.1106C>A (p.Ala369Asp) | |
| X | g.19359544C>G | CA412396606 | PDHA1 | c.1085C>G (p.Ala362Gly) c.*756C>G (n.*756C>G) c.1148C>G (p.Ala383Gly) c.1178C>G (p.Ala393Gly) n.859C>G c.*396C>G (n.*396C>G) c.*519C>G (n.*519C>G) c.1064C>G (p.Ala355Gly) c.221C>G (p.Ala74Gly) n.503C>G c.971C>G (p.Ala324Gly) c.1199C>G (p.Ala400Gly) c.1106C>G (p.Ala369Gly) | |
| X | g.19359544C>T | CA412396608 | PDHA1 | c.1085C>T (p.Ala362Val) c.*756C>T (n.*756C>T) c.1148C>T (p.Ala383Val) c.1178C>T (p.Ala393Val) n.859C>T c.*396C>T (n.*396C>T) c.*519C>T (n.*519C>T) c.1064C>T (p.Ala355Val) c.221C>T (p.Ala74Val) n.503C>T c.971C>T (p.Ala324Val) c.1199C>T (p.Ala400Val) c.1106C>T (p.Ala369Val) | |
| X | g.19359545C>A | CA515486433 | PDHA1 | c.1086C>A (p.Ala362=) c.*757C>A (n.*757C>A) c.1149C>A (p.Ala383=) c.1179C>A (p.Ala393=) n.860C>A c.*397C>A (n.*397C>A) c.*520C>A (n.*520C>A) c.1065C>A (p.Ala355=) c.222C>A (p.Ala74=) n.504C>A c.972C>A (p.Ala324=) c.1200C>A (p.Ala400=) c.1107C>A (p.Ala369=) | ClinVar dbSNP gnomAD v4 |
| X | g.19359545C= | CA2418225584 | PDHA1 | c.1086C= (p.Ala362=) c.*757C= (n.*757C=) c.1149C= (p.Ala383=) c.1179C= (p.Ala393=) n.860C= c.*397C= (n.*397C=) c.*520C= (n.*520C=) c.1065C= (p.Ala355=) c.222C= (p.Ala74=) n.504C= c.972C= (p.Ala324=) c.1200C= (p.Ala400=) c.1107C= (p.Ala369=) | |
| X | g.19359545C>G | CA515486434 | PDHA1 | c.1086C>G (p.Ala362=) c.*757C>G (n.*757C>G) c.1149C>G (p.Ala383=) c.1179C>G (p.Ala393=) n.860C>G c.*397C>G (n.*397C>G) c.*520C>G (n.*520C>G) c.1065C>G (p.Ala355=) c.222C>G (p.Ala74=) n.504C>G c.972C>G (p.Ala324=) c.1200C>G (p.Ala400=) c.1107C>G (p.Ala369=) | |
| X | g.19359545C>T | CA10363207 | PDHA1 | c.1086C>T (p.Ala362=) c.*757C>T (n.*757C>T) c.1149C>T (p.Ala383=) c.1179C>T (p.Ala393=) n.860C>T c.*397C>T (n.*397C>T) c.*520C>T (n.*520C>T) c.1065C>T (p.Ala355=) c.222C>T (p.Ala74=) n.504C>T c.972C>T (p.Ala324=) c.1200C>T (p.Ala400=) c.1107C>T (p.Ala369=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359546G>A | CA10363208 | PDHA1 | c.1087G>A (p.Asp363Asn) c.*758G>A (n.*758G>A) c.1150G>A (p.Asp384Asn) c.1180G>A (p.Asp394Asn) n.861G>A c.*398G>A (n.*398G>A) c.*521G>A (n.*521G>A) c.1066G>A (p.Asp356Asn) c.223G>A (p.Asp75Asn) n.505G>A c.973G>A (p.Asp325Asn) c.1201G>A (p.Asp401Asn) c.1108G>A (p.Asp370Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359546G>C | CA412396616 | PDHA1 | c.1087G>C (p.Asp363His) c.*758G>C (n.*758G>C) c.1150G>C (p.Asp384His) c.1180G>C (p.Asp394His) n.861G>C c.*398G>C (n.*398G>C) c.*521G>C (n.*521G>C) c.1066G>C (p.Asp356His) c.223G>C (p.Asp75His) n.505G>C c.973G>C (p.Asp325His) c.1201G>C (p.Asp401His) c.1108G>C (p.Asp370His) | |
| X | g.19359546G= | CA2418225585 | PDHA1 | c.1087G= (p.Asp363=) c.*758G= (n.*758G=) c.1150G= (p.Asp384=) c.1180G= (p.Asp394=) n.861G= c.*398G= (n.*398G=) c.*521G= (n.*521G=) c.1066G= (p.Asp356=) c.223G= (p.Asp75=) n.505G= c.973G= (p.Asp325=) c.1201G= (p.Asp401=) c.1108G= (p.Asp370=) | |
| X | g.19359546G>T | CA412396613 | PDHA1 | c.1087G>T (p.Asp363Tyr) c.*758G>T (n.*758G>T) c.1150G>T (p.Asp384Tyr) c.1180G>T (p.Asp394Tyr) n.861G>T c.*398G>T (n.*398G>T) c.*521G>T (n.*521G>T) c.1066G>T (p.Asp356Tyr) c.223G>T (p.Asp75Tyr) n.505G>T c.973G>T (p.Asp325Tyr) c.1201G>T (p.Asp401Tyr) c.1108G>T (p.Asp370Tyr) | |
| X | g.19359546_19359554dup | CA2499226555 | PDHA1 | c.1087_1095dup (p.Glu365_Pro366insAspProGlu) c.*758_*766dup (n.*758_*766dup) c.1150_1158dup (p.Glu386_Pro387insAspProGlu) c.1180_1188dup (p.Glu396_Pro397insAspProGlu) n.861_869dup c.*398_*406dup (n.*398_*406dup) c.*521_*529dup (n.*521_*529dup) c.1066_1074dup (p.Glu358_Pro359insAspProGlu) c.223_231dup (p.Glu77_Pro78insAspProGlu) n.505_513dup c.973_981dup (p.Glu327_Pro328insAspProGlu) c.1201_1209dup (p.Glu403_Pro404insAspProGlu) c.1108_1116dup (p.Glu372_Pro373insAspProGlu) | ClinVar dbSNP |
| X | g.19359547A>C | CA412396618 | PDHA1 | c.1088A>C (p.Asp363Ala) c.*759A>C (n.*759A>C) c.1151A>C (p.Asp384Ala) c.1181A>C (p.Asp394Ala) n.862A>C c.*399A>C (n.*399A>C) c.*522A>C (n.*522A>C) c.1067A>C (p.Asp356Ala) c.224A>C (p.Asp75Ala) n.506A>C c.974A>C (p.Asp325Ala) c.1202A>C (p.Asp401Ala) c.1109A>C (p.Asp370Ala) | |
| X | g.19359547A>G | CA412396620 | PDHA1 | c.1088A>G (p.Asp363Gly) c.*759A>G (n.*759A>G) c.1151A>G (p.Asp384Gly) c.1181A>G (p.Asp394Gly) n.862A>G c.*399A>G (n.*399A>G) c.*522A>G (n.*522A>G) c.1067A>G (p.Asp356Gly) c.224A>G (p.Asp75Gly) n.506A>G c.974A>G (p.Asp325Gly) c.1202A>G (p.Asp401Gly) c.1109A>G (p.Asp370Gly) | |
| X | g.19359547A>T | CA412396622 | PDHA1 | c.1088A>T (p.Asp363Val) c.*759A>T (n.*759A>T) c.1151A>T (p.Asp384Val) c.1181A>T (p.Asp394Val) n.862A>T c.*399A>T (n.*399A>T) c.*522A>T (n.*522A>T) c.1067A>T (p.Asp356Val) c.224A>T (p.Asp75Val) n.506A>T c.974A>T (p.Asp325Val) c.1202A>T (p.Asp401Val) c.1109A>T (p.Asp370Val) | |
| X | g.19359548T>A | CA412396625 | PDHA1 | c.1089T>A (p.Asp363Glu) c.*760T>A (n.*760T>A) c.1152T>A (p.Asp384Glu) c.1182T>A (p.Asp394Glu) n.863T>A c.*400T>A (n.*400T>A) c.*523T>A (n.*523T>A) c.1068T>A (p.Asp356Glu) c.225T>A (p.Asp75Glu) n.507T>A c.975T>A (p.Asp325Glu) c.1203T>A (p.Asp401Glu) c.1110T>A (p.Asp370Glu) | |
| X | g.19359548T>C | CA10363209 | PDHA1 | c.1089T>C (p.Asp363=) c.*760T>C (n.*760T>C) c.1152T>C (p.Asp384=) c.1182T>C (p.Asp394=) n.863T>C c.*400T>C (n.*400T>C) c.*523T>C (n.*523T>C) c.1068T>C (p.Asp356=) c.225T>C (p.Asp75=) n.507T>C c.975T>C (p.Asp325=) c.1203T>C (p.Asp401=) c.1110T>C (p.Asp370=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359548T>G | CA412396628 | PDHA1 | c.1089T>G (p.Asp363Glu) c.*760T>G (n.*760T>G) c.1152T>G (p.Asp384Glu) c.1182T>G (p.Asp394Glu) n.863T>G c.*400T>G (n.*400T>G) c.*523T>G (n.*523T>G) c.1068T>G (p.Asp356Glu) c.225T>G (p.Asp75Glu) n.507T>G c.975T>G (p.Asp325Glu) c.1203T>G (p.Asp401Glu) c.1110T>G (p.Asp370Glu) | |
| X | g.19359548T= | CA2418225586 | PDHA1 | c.1089T= (p.Asp363=) c.*760T= (n.*760T=) c.1152T= (p.Asp384=) c.1182T= (p.Asp394=) n.863T= c.*400T= (n.*400T=) c.*523T= (n.*523T=) c.1068T= (p.Asp356=) c.225T= (p.Asp75=) n.507T= c.975T= (p.Asp325=) c.1203T= (p.Asp401=) c.1110T= (p.Asp370=) | |
| X | g.19359549C>A | CA412396630 | PDHA1 | c.1090C>A (p.Pro364Thr) c.*761C>A (n.*761C>A) c.1153C>A (p.Pro385Thr) c.1183C>A (p.Pro395Thr) n.864C>A c.*401C>A (n.*401C>A) c.*524C>A (n.*524C>A) c.1069C>A (p.Pro357Thr) c.226C>A (p.Pro76Thr) n.508C>A c.976C>A (p.Pro326Thr) c.1204C>A (p.Pro402Thr) c.1111C>A (p.Pro371Thr) | |
| X | g.19359549C>G | CA412396633 | PDHA1 | c.1090C>G (p.Pro364Ala) c.*761C>G (n.*761C>G) c.1153C>G (p.Pro385Ala) c.1183C>G (p.Pro395Ala) n.864C>G c.*401C>G (n.*401C>G) c.*524C>G (n.*524C>G) c.1069C>G (p.Pro357Ala) c.226C>G (p.Pro76Ala) n.508C>G c.976C>G (p.Pro326Ala) c.1204C>G (p.Pro402Ala) c.1111C>G (p.Pro371Ala) | ClinVar dbSNP |
| X | g.19359549C>T | CA412396635 | PDHA1 | c.1090C>T (p.Pro364Ser) c.*761C>T (n.*761C>T) c.1153C>T (p.Pro385Ser) c.1183C>T (p.Pro395Ser) n.864C>T c.*401C>T (n.*401C>T) c.*524C>T (n.*524C>T) c.1069C>T (p.Pro357Ser) c.226C>T (p.Pro76Ser) n.508C>T c.976C>T (p.Pro326Ser) c.1204C>T (p.Pro402Ser) c.1111C>T (p.Pro371Ser) | |
| X | g.19359549_19359569delinsCCTGAGCCACCTTTGGAAGAG | CA2418225587 | PDHA1 | c.1090_1110delinsCCTGAGCCACCTTTGGAAGAG (p.Pro364=) c.*761_*781delinsCCTGAGCCACCTTTGGAAGAG (n.*761_*781delinsCCTGAGCCACCTTTGGAAGAG) c.1153_1173delinsCCTGAGCCACCTTTGGAAGAG (p.Pro385=) c.1183_1203delinsCCTGAGCCACCTTTGGAAGAG (p.Pro395=) n.864_884delinsCCTGAGCCACCTTTGGAAGAG c.*401_*421delinsCCTGAGCCACCTTTGGAAGAG (n.*401_*421delinsCCTGAGCCACCTTTGGAAGAG) c.*524_*544delinsCCTGAGCCACCTTTGGAAGAG (n.*524_*544delinsCCTGAGCCACCTTTGGAAGAG) c.1069_1089delinsCCTGAGCCACCTTTGGAAGAG (p.Pro357=) c.226_246delinsCCTGAGCCACCTTTGGAAGAG (p.Pro76=) n.508_528delinsCCTGAGCCACCTTTGGAAGAG c.976_996delinsCCTGAGCCACCTTTGGAAGAG (p.Pro326=) c.1204_1224delinsCCTGAGCCACCTTTGGAAGAG (p.Pro402=) c.1111_1131delinsCCTGAGCCACCTTTGGAAGAG (p.Pro371=) | |
| X | g.19359550C>A | CA412396638 | PDHA1 | c.1091C>A (p.Pro364His) c.*762C>A (n.*762C>A) c.1154C>A (p.Pro385His) c.1184C>A (p.Pro395His) n.865C>A c.*402C>A (n.*402C>A) c.*525C>A (n.*525C>A) c.1070C>A (p.Pro357His) c.227C>A (p.Pro76His) n.509C>A c.977C>A (p.Pro326His) c.1205C>A (p.Pro402His) c.1112C>A (p.Pro371His) | |
| X | g.19359550C>G | CA412396639 | PDHA1 | c.1091C>G (p.Pro364Arg) c.*762C>G (n.*762C>G) c.1154C>G (p.Pro385Arg) c.1184C>G (p.Pro395Arg) n.865C>G c.*402C>G (n.*402C>G) c.*525C>G (n.*525C>G) c.1070C>G (p.Pro357Arg) c.227C>G (p.Pro76Arg) n.509C>G c.977C>G (p.Pro326Arg) c.1205C>G (p.Pro402Arg) c.1112C>G (p.Pro371Arg) | |
| X | g.19359550C>T | CA412396642 | PDHA1 | c.1091C>T (p.Pro364Leu) c.*762C>T (n.*762C>T) c.1154C>T (p.Pro385Leu) c.1184C>T (p.Pro395Leu) n.865C>T c.*402C>T (n.*402C>T) c.*525C>T (n.*525C>T) c.1070C>T (p.Pro357Leu) c.227C>T (p.Pro76Leu) n.509C>T c.977C>T (p.Pro326Leu) c.1205C>T (p.Pro402Leu) c.1112C>T (p.Pro371Leu) | |
| X | g.19359553_19359572del | CA121210 | PDHA1 | c.1094_1113del (p.Glu365GlyfsTer12) c.*765_*784del (n.*765_*784del) c.1157_1176del (p.Glu386GlyfsTer12) c.1187_1206del (p.Glu396GlyfsTer12) n.868_887del c.*405_*424del (n.*405_*424del) c.*528_*547del (n.*528_*547del) c.1073_1092del (p.Glu358GlyfsTer12) c.230_249del (p.Glu77GlyfsTer12) n.512_531del c.980_999del (p.Glu327GlyfsTer12) c.1208_1227del (p.Glu403GlyfsTer12) c.1115_1134del (p.Glu372GlyfsTer12) | ClinVar dbSNP |
| X | g.19359551T>A | CA515486435 | PDHA1 | c.1092T>A (p.Pro364=) c.*763T>A (n.*763T>A) c.1155T>A (p.Pro385=) c.1185T>A (p.Pro395=) n.866T>A c.*403T>A (n.*403T>A) c.*526T>A (n.*526T>A) c.1071T>A (p.Pro357=) c.228T>A (p.Pro76=) n.510T>A c.978T>A (p.Pro326=) c.1206T>A (p.Pro402=) c.1113T>A (p.Pro371=) | |
| X | g.19359551T>C | CA515486436 | PDHA1 | c.1092T>C (p.Pro364=) c.*763T>C (n.*763T>C) c.1155T>C (p.Pro385=) c.1185T>C (p.Pro395=) n.866T>C c.*403T>C (n.*403T>C) c.*526T>C (n.*526T>C) c.1071T>C (p.Pro357=) c.228T>C (p.Pro76=) n.510T>C c.978T>C (p.Pro326=) c.1206T>C (p.Pro402=) c.1113T>C (p.Pro371=) | gnomAD v4 |
| X | g.19359551T>G | CA515486437 | PDHA1 | c.1092T>G (p.Pro364=) c.*763T>G (n.*763T>G) c.1155T>G (p.Pro385=) c.1185T>G (p.Pro395=) n.866T>G c.*403T>G (n.*403T>G) c.*526T>G (n.*526T>G) c.1071T>G (p.Pro357=) c.228T>G (p.Pro76=) n.510T>G c.978T>G (p.Pro326=) c.1206T>G (p.Pro402=) c.1113T>G (p.Pro371=) | |
| X | g.19359551_19359568dup | CA2695231670 | PDHA1 | c.1092_1109dup (p.Glu369_Glu370insAspGluProProLeuGlu) c.*763_*780dup (n.*763_*780dup) c.1155_1172dup (p.Glu390_Glu391insAspGluProProLeuGlu) c.1185_1202dup (p.Glu400_Glu401insAspGluProProLeuGlu) n.866_883dup c.*403_*420dup (n.*403_*420dup) c.*526_*543dup (n.*526_*543dup) c.1071_1088dup (p.Glu362_Glu363insAspGluProProLeuGlu) c.228_245dup (p.Glu81_Glu82insAspGluProProLeuGlu) n.510_527dup c.978_995dup (p.Glu331_Glu332insAspGluProProLeuGlu) c.1206_1223dup (p.Glu407_Glu408insAspGluProProLeuGlu) c.1113_1130dup (p.Glu376_Glu377insAspGluProProLeuGlu) | |
| X | g.19359552G>A | CA412396646 | PDHA1 | c.1093G>A (p.Glu365Lys) c.*764G>A (n.*764G>A) c.1156G>A (p.Glu386Lys) c.1186G>A (p.Glu396Lys) n.867G>A c.*404G>A (n.*404G>A) c.*527G>A (n.*527G>A) c.1072G>A (p.Glu358Lys) c.229G>A (p.Glu77Lys) n.511G>A c.979G>A (p.Glu327Lys) c.1207G>A (p.Glu403Lys) c.1114G>A (p.Glu372Lys) | ClinVar dbSNP |
| X | g.19359552G>C | CA412396650 | PDHA1 | c.1093G>C (p.Glu365Gln) c.*764G>C (n.*764G>C) c.1156G>C (p.Glu386Gln) c.1186G>C (p.Glu396Gln) n.867G>C c.*404G>C (n.*404G>C) c.*527G>C (n.*527G>C) c.1072G>C (p.Glu358Gln) c.229G>C (p.Glu77Gln) n.511G>C c.979G>C (p.Glu327Gln) c.1207G>C (p.Glu403Gln) c.1114G>C (p.Glu372Gln) | |
| X | g.19359552G>T | CA412396648 | PDHA1 | c.1093G>T (p.Glu365Ter) c.*764G>T (n.*764G>T) c.1156G>T (p.Glu386Ter) c.1186G>T (p.Glu396Ter) n.867G>T c.*404G>T (n.*404G>T) c.*527G>T (n.*527G>T) c.1072G>T (p.Glu358Ter) c.229G>T (p.Glu77Ter) n.511G>T c.979G>T (p.Glu327Ter) c.1207G>T (p.Glu403Ter) c.1114G>T (p.Glu372Ter) | |
| X | g.19359553A= | CA2418225588 | PDHA1 | c.1094A= (p.Glu365=) c.*765A= (n.*765A=) c.1157A= (p.Glu386=) c.1187A= (p.Glu396=) n.868A= c.*405A= (n.*405A=) c.*528A= (n.*528A=) c.1073A= (p.Glu358=) c.230A= (p.Glu77=) n.512A= c.980A= (p.Glu327=) c.1208A= (p.Glu403=) c.1115A= (p.Glu372=) | |
| X | g.19359553A>C | CA412396652 | PDHA1 | c.1094A>C (p.Glu365Ala) c.*765A>C (n.*765A>C) c.1157A>C (p.Glu386Ala) c.1187A>C (p.Glu396Ala) n.868A>C c.*405A>C (n.*405A>C) c.*528A>C (n.*528A>C) c.1073A>C (p.Glu358Ala) c.230A>C (p.Glu77Ala) n.512A>C c.980A>C (p.Glu327Ala) c.1208A>C (p.Glu403Ala) c.1115A>C (p.Glu372Ala) | |
| X | g.19359553A>G | CA412396654 | PDHA1 | c.1094A>G (p.Glu365Gly) c.*765A>G (n.*765A>G) c.1157A>G (p.Glu386Gly) c.1187A>G (p.Glu396Gly) n.868A>G c.*405A>G (n.*405A>G) c.*528A>G (n.*528A>G) c.1073A>G (p.Glu358Gly) c.230A>G (p.Glu77Gly) n.512A>G c.980A>G (p.Glu327Gly) c.1208A>G (p.Glu403Gly) c.1115A>G (p.Glu372Gly) | |
| X | g.19359553A>T | CA412396656 | PDHA1 | c.1094A>T (p.Glu365Val) c.*765A>T (n.*765A>T) c.1157A>T (p.Glu386Val) c.1187A>T (p.Glu396Val) n.868A>T c.*405A>T (n.*405A>T) c.*528A>T (n.*528A>T) c.1073A>T (p.Glu358Val) c.230A>T (p.Glu77Val) n.512A>T c.980A>T (p.Glu327Val) c.1208A>T (p.Glu403Val) c.1115A>T (p.Glu372Val) | |
| X | g.19359554G>A | CA515486438 | PDHA1 | c.1095G>A (p.Glu365=) c.*766G>A (n.*766G>A) c.1158G>A (p.Glu386=) c.1188G>A (p.Glu396=) n.869G>A c.*406G>A (n.*406G>A) c.*529G>A (n.*529G>A) c.1074G>A (p.Glu358=) c.231G>A (p.Glu77=) n.513G>A c.981G>A (p.Glu327=) c.1209G>A (p.Glu403=) c.1116G>A (p.Glu372=) | |
| X | g.19359554G>C | CA412396664 | PDHA1 | c.1095G>C (p.Glu365Asp) c.*766G>C (n.*766G>C) c.1158G>C (p.Glu386Asp) c.1188G>C (p.Glu396Asp) n.869G>C c.*406G>C (n.*406G>C) c.*529G>C (n.*529G>C) c.1074G>C (p.Glu358Asp) c.231G>C (p.Glu77Asp) n.513G>C c.981G>C (p.Glu327Asp) c.1209G>C (p.Glu403Asp) c.1116G>C (p.Glu372Asp) |